NHS North West Genomics
0.1.0 - ci-build
NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/nw-gmsa.github.com/ and changes regularly. See the Directory of published versions
Bundle 92a0a6c6-404f-4347-8de4-fa1c457a037e of type searchset
Entry 1 - fullUrl = http://example.org/fhir/Observation/6beb613f-d303-42af-b025-86e8e0872061
Search:Mode = match
Resource Observation:
Profile: Observation Diagnostic Implication
identifier: 6beb613f-d303-42af-b025-86e8e0872061
status: Final
category: Laboratory, Genetics
code: Diagnostic Implication
subject: Paul LIVERPOOL
effective: 2025-10-23 10:37:26+0000
performer: PractitionerRole
derivedFrom: Observation Genetic variant assessment
component
code: Genetic variation clinical significance [Imp]
value: Pathogenic
component
code: Associated phenotype
value: Inherited MMR deficiency (Lynch syndrome)